Abnormal pupillary light reflex with chromatic pupillometry in G aucher disease
Annals of Clinical and Translational Neurology2014Vol. 1(2), pp. 135–140
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Aya Narita, Kentarou Shirai, Norika Kubota, Rumiko Takayama, Yukitoshi Takahashi, Takanori Onuki, Chikahiko Numakura, Mitsuhiro Kato, Yusuke Hamada, Norio Sakai, Atsuko Ohno, Maya Asami, Shoko Matsushita, Anri Hayashi, Tomohiro Kumada, Tatsuya Fujii, Asako Horino, Takeshi Inoue, Ichiro Kuki, Ken Asakawa, Hitoshi Ishikawa, Koyo Ohno, Yoko Nishimura, Akiko Tamasaki, Yoshihiro Maegaki, Kousaku Ohno
Abstract
The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD. In our neuronopathic GD patients, red light-induced PLR was markedly impaired, whereas blue light-induced PLR was relatively spared. In addition, patients with non-neuronopathic GD showed no abnormalities. These novel findings show that chromatic pupillometry is a convenient method to detect neurological signs and monitor the course of disease in neuronopathic GD.
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